VPS11-related autosomal recessive hypomyelinating leukodystrophy
Synonyms: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | VPS11-related autosomal recessive hypomyelinating leukodystrophy | VPS11-related autosomal recessive hypomyelinating leukoencephalopathy |
| fr | Leucodystrophie hypomyélinisante autosomique récessive associée à VPS11 | Leucoencéphalopathie hypomyélinisante autosomique récessive associée à VPS11 |
| de | Hypomyelinisierende Leukodystrophie, VPS11-abhängige, autosomal-rezessive | VPS11-assoziierte autosomal-rezessive hypomyelinisierende Leukodystrophie |
| es | Leucodistrofia hipomielinizante autosómica recesiva asociada a VPS11 | Leucoencefalopatía hipomielinizante autosómica recesiva asociada a VPS11 |
| it | Leucodistrofia ipomielinizzante autosomica recessiva correlata a VPS11 | |
| nl | VPS11-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie | VPS11-gerelateerde autosomaal recessieve hypomyeliniserende leuko-encefalopathie |
| pt | Leucodistrofia hipomelizante autossómica recessiva VPS11-relacionada | |
| pl | Autosomalna recesywna leukodystrofia hipomielinizacyjna zależna od VPS11 | Autosomalna recesywna leukoencefalopatia hipomielinizacyjna zależna od VPS11 |
| cs | VPS11 asociovaná autozomálně recesivní hypomyelinizační leukodystrofie | VPS11-related autosomal recessive hypomyelinating leukoencephalopathy · Autozomálně recesivní hypomyelinizační leukoencefalopatie související s VPS11 |
| uk | Автосомно-рецесивна гіпомієлінізуюча лейкодистрофія, повязана з VPS11 | Аутосомно-рецесивна гіпомієлінізуюча лейкоенцефалопатія, повязана з VPS11 |
| zh | VPS11相关常染色体隐性遗传性脑白质营养不良-髓鞘发育不良病 | VPS11相关常染色体隐性脑白质营养不良-髓鞘发育不良病 |
| tr | VPS11-ilişkili otozomal resesif hipomiyelinizan lökodistrofi | VPS11-ilişkili otozomal çekinik hipomiyelinizan lökoensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616683 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0014732 | E | validated | |
| UMLS | C5568878 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VPS11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14583 | ENSG00000160695 | 608549 | 11q23.3 | VPS11 core subunit of CORVET and HOPS complexes | 26307567[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 26307567[PMID]_27119754[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26307567[PMID]_27119754[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2018-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100704 | Cerebral visual impairment | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0001344 | Absent speech | |
| HP:0002019 | Constipation | |
| HP:0002188 | Delayed CNS myelination | |
| HP:0007204 | Diffuse white matter abnormalities | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0001510 | Growth delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000011 | Neurogenic bladder | |
| HP:0000648 | Optic atrophy | |
| HP:0007301 | Oromotor apraxia | |
| HP:0002465 | Poor speech | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001257 | Spasticity | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0001272 | Cerebellar atrophy | |
| Excluded (0%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0001433 | Hepatosplenomegaly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 26307567[PMID]_27120463[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466934
- This record as JSON: /data/d/466934.json